A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262667



Internal ID22133956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78971516..79060989hg38UCSC Ensembl
Outerchr18:76731516..76820989hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3823086
hg1923086
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240872
Supporting Variants
SamplesHG00513
Known GenesSALL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262667
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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